PMEL premelanosome protein

Information
Symbol
PMEL
Type
protein-coding
Description
premelanosome protein
Entrez Gene ID
6490
Genome
hg19
Position
chr12:56,347,889-56,359,806
Genome
hg38
Position
chr12:55,954,105-55,966,022
MIM
155550 OMIM
HGNC
HGNC:10880 HGNC
Ensembl
ENSG00000185664 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 10
Uncertain significance 0 42
Ranking
ClinVar
0
0
4
66
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM D12S53E
SYNONYM HMB-45
SYNONYM HMB45
SYNONYM ME20
SYNONYM ME20-M
SYNONYM ME20M
SYNONYM P1
SYNONYM P100
SYNONYM PMEL17
SYNONYM SI
SYNONYM SIL
SYNONYM SILV
SYNONYM gp100
MIM 155550 OMIM
HGNC HGNC:10880 HGNC
Ensembl ENSG00000185664 Ensembl
AllianceGenome HGNC:10880
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000449260.6 hg38 chr12 55,954,105 55,966,022 11,918
ENST00000550464.5 hg38 chr12 55,954,106 55,966,042 11,937
ENST00000548747.6 hg38 chr12 55,954,105 55,966,042 11,938
ENST00000548493.5 hg38 chr12 55,954,106 55,966,736 12,631
ENST00000550447.5 hg38 chr12 55,954,200 55,966,025 11,826
ENST00000552882.5 hg38 chr12 55,954,105 55,966,662 12,558
ENST00000449260.6 hg19 chr12 56,347,889 56,359,806 11,918
ENST00000548747.6 hg19 chr12 56,347,889 56,359,826 11,938
ENST00000548493.5 hg19 chr12 56,347,890 56,360,520 12,631
ENST00000550447.5 hg19 chr12 56,347,984 56,359,809 11,826
ENST00000550464.5 hg19 chr12 56,347,890 56,359,826 11,937
ENST00000552882.5 hg19 chr12 56,347,889 56,360,446 12,558
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